Table 1 Summary of CHEK2 germline variants found in 120 patients with HPC in the SSCP analysis
From: CHEK2 variants associate with hereditary prostate cancer
Mutation | Amino-acid change | Exon/intron | Domain |
|---|---|---|---|
252A>G | Silent (E84) | Exon 1 | Unknown |
319+(43−44)insA | — | Intron1 | — |
470T>C | I157T | Exon 3 | FHAa |
1100delC | Frameshift | Exon 10 | Kinase |
1312G>T | D438Y | Exon 11 | Kinase |
a FHA=forkhead-associated domain. | |||
